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Glycobiology|April 23, 2015
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblastsPing He, Jeff E Grotzke, Bobby G Ng, et al.
Nature Communications|September 16, 2018
Proteomics reveals signal peptide features determining the client specificity in human TRAP-dependent ER protein importDuy Nguyen, Regine Stutz, Stefan Schorr, et al.
Glycobiology|July 18, 2002
Molecular cloning, gene organization, and expression of mouse Mpi encoding phosphomannose isomeraseJoseph A Davis, Xiao-Hua Wu, Ling Wang, et al.
Human Molecular Genetics|February 14, 2015
Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursorsBobby G Ng, Lynne A Wolfe, Mie Ichikawa, et al.
Biorxiv : the Preprint Server for Biology|April 27, 2026
Patient iPSC-Derived Cartilage Organoids Reveal Defective ECM Deposition and Altered Chondrogenic Trajectory in Saul-Wilson SyndromeSonal Mahajan, Sara Ancel, Giuliana Ascone, et al.
American Journal of Medical Genetics. Part A|January 25, 2019
ALG11-CDG syndrome: Expanding the phenotypeMaria K Haanpää, Bobby G Ng, Natalie M Gallant, et al.
American Journal of Medical Genetics. Part A|May 17, 2007
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethalityChristian Kranz, Alice A Basinger, Müge Güçsavaş-Calikoğlu, et al.
The Journal of Clinical Investigation|January 22, 2000
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)S Kim, V Westphal, G Srikrishna, et al.
Orphanet Journal of Rare Diseases|February 26, 2021
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history studyPeter Witters, Andrew C Edmondson, Christina Lam, et al.
The Journal of Biological Chemistry|December 13, 2005
Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethalityCharles DeRossi, Lars Bode, Erik A Eklund, et al.
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